rs1060499548 in
ABL1 gene and
Micrognathism
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1135401778 in
BPTF gene and
Micrognathism
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1554333853 in
CDK13 gene and
Micrognathism
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs864309486 in
GMNN gene and
Micrognathism
PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
rs1563686762 in
RAD21;UTP23 gene and
Micrognathism
PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.